and characterization of families with aggregation of lung cancer
Tomizawa Y, Adachi J, Kohno T, Yamaguchi N, Saito R, Yokota J
Biology Division, National Cancer Center Research Institute,
Background. To clarify genetic factors involved in the susceptibility to lung
cancer, it is essential to identify families with lung cancer clustering and to
characterize the mode of clustering.
Since somatic mutations of the p53, RB and p16 genes occur frequently in lung
cancer and the replication error phenotype is seen in a subset of lung cancer,
it is possible that germ-line mutations of the p53, RB, p16 and mismatch repair
genes influence the susceptibility to lung cancer.
In this work, cases with familial clustering of lung cancer were selected from
1068 families with primary lung cancer cases in analogy with the criteria for
hereditary non-polyposis colorectal cancer (HNPCC).
Cases with Li-Fraumeni syndrome, familial retinoblastoma, familial melanoma and
HNPCC were also searched among these 1068 families.
There were only four families (0.4%) in which more than three relatives were
affected by lung cancer.
Two successive generations were affected in 36 families (3.4%).
Patients with lung cancer before the age of 50 were present in 165 families
However, no family conformed to all three criteria.
There was only one family with Li-Fraumeni syndrome and no family with familial
retinoblastoma, familial melanoma and HNPCC.
Familial aggregation of lung cancer is rare and germ-line mutations of the p53,
RB, p16 and mismatch repair genes may not contribute greatly to susceptibility
to lung cancer.
PMID: 9614442 [PubMed - indexed for MEDLINE]